Mutagenetix > Incidental Mutation

Incidental Mutation 'R6314:Lmnb2'

509950

Institutional Source

Beutler Lab

Gene Symbol

Lmnb2

Ensembl Gene

ENSMUSG00000062075

Gene Name

lamin B2

Synonyms

lamin B3

MMRRC Submission

044471-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6314 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80737197-80754079 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80745804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 92 (R92C)

Ref Sequence

ENSEMBL: ENSMUSP00000136524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057623] [ENSMUST00000105332] [ENSMUST00000179022]

AlphaFold

P21619

Predicted Effect

probably damaging
Transcript: ENSMUST00000057623
AA Change: R111C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057291
Gene: ENSMUSG00000062075
AA Change: R111C

Domain	Start	End	E-Value	Type
Filament	42	398	1.97e-47	SMART
low complexity region	402	422	N/A	INTRINSIC
internal_repeat_1	427	442	1.72e-5	PROSPERO
low complexity region	444	458	N/A	INTRINSIC
Pfam:LTD	462	575	9.3e-16	PFAM
low complexity region	579	596	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105332

SMART Domains

Protein: ENSMUSP00000100969
Gene: ENSMUSG00000062075

Domain	Start	End	E-Value	Type
Pfam:Filament	77	257	1.2e-49	PFAM
low complexity region	261	281	N/A	INTRINSIC
Pfam:LTD	317	435	6.7e-23	PFAM
low complexity region	438	455	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159094

Predicted Effect

probably damaging
Transcript: ENSMUST00000179022
AA Change: R92C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136524
Gene: ENSMUSG00000062075
AA Change: R92C

Domain	Start	End	E-Value	Type
Pfam:Filament	23	379	8.9e-96	PFAM
low complexity region	383	403	N/A	INTRINSIC
internal_repeat_1	408	423	1.1e-5	PROSPERO
Pfam:LTD	439	557	1.3e-23	PFAM
low complexity region	560	577	N/A	INTRINSIC

Meta Mutation Damage Score

0.2867

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal death with abnormal brain development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	A	C	5: 146,441,702 (GRCm39)	E283A	possibly damaging	Het
Aadacl2	A	T	3: 59,924,824 (GRCm39)	R130S	probably damaging	Het
Adam22	A	T	5: 8,177,365 (GRCm39)	C581*	probably null	Het
Adss2	T	A	1: 177,595,334 (GRCm39)	Y402F	probably damaging	Het
Agfg1	A	T	1: 82,836,155 (GRCm39)	Q13H	probably damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Armc8	A	G	9: 99,417,937 (GRCm39)	S74P	probably benign	Het
Atn1	A	T	6: 124,724,013 (GRCm39)		probably benign	Het
Ddx5	T	C	11: 106,679,347 (GRCm39)		probably benign	Het
Depdc1a	T	A	3: 159,204,051 (GRCm39)	H33Q	probably damaging	Het
Dnmt3l	A	T	10: 77,895,521 (GRCm39)	Y58F	probably benign	Het
Efemp1	C	T	11: 28,864,603 (GRCm39)	T219I	probably benign	Het
Enpp2	T	C	15: 54,729,366 (GRCm39)	N436D	probably damaging	Het
Epb41l4a	A	G	18: 34,007,208 (GRCm39)	V261A	probably damaging	Het
Erap1	A	T	13: 74,822,894 (GRCm39)	K802N	probably damaging	Het
Fads2b	T	C	2: 85,332,520 (GRCm39)	N168S	probably benign	Het
Fcrl6	T	A	1: 172,426,186 (GRCm39)		probably null	Het
Fv1	A	T	4: 147,954,156 (GRCm39)		probably null	Het
Gdpd4	T	A	7: 97,623,160 (GRCm39)	M257K	probably damaging	Het
Gorab	T	C	1: 163,224,658 (GRCm39)	S48G	probably damaging	Het
Gxylt2	A	T	6: 100,775,164 (GRCm39)	H361L	probably damaging	Het
Hk1	A	G	10: 62,128,223 (GRCm39)	Y300H	possibly damaging	Het
Hk3	T	C	13: 55,161,393 (GRCm39)	R156G	probably benign	Het
Hook3	T	A	8: 26,578,136 (GRCm39)	M118L	probably benign	Het
Lsr	A	G	7: 30,658,024 (GRCm39)	L380P	probably damaging	Het
Mettl16	A	T	11: 74,686,832 (GRCm39)	R204*	probably null	Het
Or5h18	A	T	16: 58,847,820 (GRCm39)	I150K	probably benign	Het
Or7a37	A	G	10: 78,806,179 (GRCm39)	H232R	probably benign	Het
Or7e173	C	A	9: 19,938,958 (GRCm39)	S92I	probably damaging	Het
Orc3	C	A	4: 34,579,797 (GRCm39)	G494C	possibly damaging	Het
Pcare	T	G	17: 72,059,452 (GRCm39)	Q75P	probably benign	Het
Pip5k1a	G	T	3: 94,975,432 (GRCm39)	T346K	probably damaging	Het
Pitx1	A	T	13: 55,974,166 (GRCm39)	S222T	possibly damaging	Het
Pm20d1	T	C	1: 131,743,754 (GRCm39)	V473A	possibly damaging	Het
Pnpla6	C	T	8: 3,571,572 (GRCm39)	L168F	probably benign	Het
Pramel13	T	C	4: 144,121,157 (GRCm39)	D289G	probably damaging	Het
Reln	C	A	5: 22,357,482 (GRCm39)	E195*	probably null	Het
S100a7l2	A	T	3: 90,995,683 (GRCm39)	V73E	possibly damaging	Het
Sec24b	A	T	3: 129,800,894 (GRCm39)		probably null	Het
Selenbp1	A	G	3: 94,844,576 (GRCm39)	N78D	probably damaging	Het
Serpina1d	T	A	12: 103,730,959 (GRCm39)	T340S	probably benign	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Snap29	T	C	16: 17,237,183 (GRCm39)	M98T	probably benign	Het
Son	G	T	16: 91,457,298 (GRCm39)		probably benign	Het
Spef1l	A	C	7: 139,556,402 (GRCm39)	L195R	possibly damaging	Het
Tgfbi	A	T	13: 56,773,976 (GRCm39)	T252S	probably benign	Het
Thsd7a	T	C	6: 12,554,996 (GRCm39)	N296S	possibly damaging	Het
Tmem225	C	G	9: 40,062,016 (GRCm39)	T210S	probably benign	Het
Tmem245	A	T	4: 56,888,592 (GRCm39)	V778D	possibly damaging	Het
Tor4a	T	C	2: 25,084,794 (GRCm39)	R370G	possibly damaging	Het
Tubgcp3	T	C	8: 12,698,625 (GRCm39)	H442R	probably benign	Het
Vmn1r20	A	T	6: 57,409,042 (GRCm39)	M123L	probably benign	Het
Zfp622	T	C	15: 25,987,067 (GRCm39)	V273A	probably benign	Het
Zhx1	C	T	15: 57,917,398 (GRCm39)	V283I	probably benign	Het

Other mutations in Lmnb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Lmnb2	APN	10	80,739,871 (GRCm39)	missense	possibly damaging	0.92
IGL00908:Lmnb2	APN	10	80,745,821 (GRCm39)	missense	probably damaging	0.99
IGL01365:Lmnb2	APN	10	80,740,818 (GRCm39)	missense	probably benign	0.07
IGL01598:Lmnb2	APN	10	80,742,999 (GRCm39)	missense	probably benign	0.00
R0761:Lmnb2	UTSW	10	80,742,088 (GRCm39)	start codon destroyed	probably null	0.03
R1143:Lmnb2	UTSW	10	80,740,149 (GRCm39)	unclassified	probably benign
R1324:Lmnb2	UTSW	10	80,740,005 (GRCm39)	missense	possibly damaging	0.60
R1763:Lmnb2	UTSW	10	80,743,025 (GRCm39)	missense	probably damaging	1.00
R2229:Lmnb2	UTSW	10	80,740,226 (GRCm39)	unclassified	probably benign
R5001:Lmnb2	UTSW	10	80,753,946 (GRCm39)	missense	probably damaging	0.98
R5053:Lmnb2	UTSW	10	80,740,489 (GRCm39)	missense	probably damaging	1.00
R5334:Lmnb2	UTSW	10	80,739,791 (GRCm39)	missense	probably benign	0.08
R5713:Lmnb2	UTSW	10	80,741,921 (GRCm39)	missense	probably damaging	0.97
R5975:Lmnb2	UTSW	10	80,740,962 (GRCm39)	nonsense	probably null
R6835:Lmnb2	UTSW	10	80,745,794 (GRCm39)	missense	probably damaging	1.00
R7663:Lmnb2	UTSW	10	80,740,573 (GRCm39)	missense	probably damaging	1.00
R7776:Lmnb2	UTSW	10	80,753,991 (GRCm39)	missense	possibly damaging	0.52
R8230:Lmnb2	UTSW	10	80,740,982 (GRCm39)	missense	probably damaging	0.97
R8728:Lmnb2	UTSW	10	80,740,913 (GRCm39)	critical splice donor site	probably null
R9032:Lmnb2	UTSW	10	80,740,091 (GRCm39)	missense	probably benign	0.03
R9063:Lmnb2	UTSW	10	80,742,005 (GRCm39)	missense	probably benign	0.00
R9085:Lmnb2	UTSW	10	80,740,091 (GRCm39)	missense	probably benign	0.03
Z1176:Lmnb2	UTSW	10	80,739,072 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TATGGCCCCATTTCAACACC -3'
(R):5'- AGACCACCTAGACTCCTCTG -3'

Sequencing Primer
(F):5'- GTACTATGTTCATGCATGCGC -3'
(R):5'- GTCATAAGACAGTGTCATAGGGTC -3'

Posted On

2018-04-02